Search Results - "genetic testing"

Congenital hyperinsulinism: A case report and challenges in management by Neha Goel, Shobhna Gupta, Rajni Sharma, Sugandha Arya

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A case of hepatic small vessel neoplasm without previously reported hotspot mutation of alpha subfamily of G proteins by Minako Yamamura, Yasunori Sato, Kenta Takahashi, Hiep Nguyen Canh, Zihan Li, Kazuyoshi Hosomichi, Atsushi Tajima, Takuro Terada, Yasuni Nakanuma, Kenichi Harada

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Glioneuronal and neuronal tumors: A review with special reference to the new types in the WHO CNS5 classification by Takashi Komori

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A systematic review of knowledge, attitude and practice of pharmacogenomics in pediatric oncology patients by Claire Moore, Smaro Lazarakis, Tayla Stenta, Marliese Alexander, Rachel Phan Nguyen, David A. Elliott, Rachel Conyers

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BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center by Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir, Deborah Mukherji

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A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review by Ying Zhang, Yanyan Nie, Yu Mu, Jie Zheng, Xiaowei Xu, Fang Zhang, Jianbo Shu, Yang Liu

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Rare red cell enzymopathies in the Indian population: A comprehensive review by Prabhakar Kedar, Rashmi Dongerdiye, Ritika Khurana, Sangeeta Mudaliar

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Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism-A Clinical Report and Recommendations by Katherine G. Langley, Elizabeth N. Chisholm, Brooke B. Spangler, Erin T. Strovel, Jennifer O. Macdonald, Samantha Schrier Vergano

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Desmopressin responding female nephrogenic diabetes insipidus: a case report by Juyeon Lee, Hae Il Cheong, Jung Won Lee, Ki Soo Pai

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Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II by Ho-Poh Kek, Wan-Long Tsai, Pao-Chin Chiu, Wen-Harn Koh, Ching-Chung Tsai

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Clinical Case of Complicated Thrombophilia in a Patient with Ulcerative Colitis by S. A. Boldueva, I. V. Yarmosh, A. N. Dolinova, Z. G. Kaloeva, M. Yu. Serkova, V. M. Avramova

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Focal Dermal Hypoplasia: Case Series by Maria Mansouri, Fatima Zohra Bouzid, Said Amal, Oufae Hocar, Nissrine Aboussair

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Second-Trimester Diagnosis of Triploidy: A Series of Four Cases by J. B. Wick, K. J. Johnson, J. O'Brien, M. J. Wick

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Case report: maple syrup urine disease with a novel DBT gene mutation by Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian

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Telangiectasia Macularis Eruptiva Perstans: more than skin deep by Casey E. Watkins, Winston B. Bokor, Stuart Leicht, George Youngberg, Guha Krishnaswamy

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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene by Seung Heo, Ja-Hyun Jang, Jeesuk Yu

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Personalized medicine in non-small cell lung cancer: a review from a pharmacogenomics perspective by Wenxiao Jiang, Guiqing Cai, Peter C. Hu, Yue Wang

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Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report by Bin Rubaian NF, Al-Awam BS, Aljohani SM, Almuhaidib SR

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A case report of a patient with recurrent and severe infections highlighting the importance of considering inborn errors of immunity by Fajer Altammar, Fajer Altammar, Mohammed Alshamali, Marwan Alqunaee, Marwan Alqunaee, Ahmad J. Alali, Reem M. Elshafie, Waleed Al-Herz, Waleed Al-Herz

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Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases by Sergei A. Kurbatov

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